Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis

被引：21

作者：

Pehlivan, Davut ^{[1
,2
]}

Akdemir, Zeynep Coban ^{[2
]}

Karaca, Ender ^{[2
]}

Bayram, Yavuz ^{[2
]}

Jhangiani, Shalini ^{[3
]}

Yildiz, Edibe Pembegul ^{[4
]}

Muzny, Donna ^{[3
]}

Uluc, Kayihan ^{[5
]}

Gibbs, Richard A. ^{[3
]}

Elcioglu, Nursel ^{[6
]}

Lupski, James R. ^{[2
,3
,7
,8
]}

Harel, Tamar ^{[2
]}

机构：

[1] Baylor Coll Med, Neurol Sect, Dept Pediat, Houston, TX 77030 USA

[2] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[3] Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA

[4] Istanbul Univ, Sch Med, Dept Pediat, Neurol Sect, Istanbul, Turkey

[5] Marmara Univ, Dept Pediat Neurol, Sch Med, Istanbul, Turkey

[6] Marmara Univ, Dept Pediat Genet, Sch Med, Istanbul, Turkey

[7] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA

[8] Texas Childrens Hosp, Houston, TX 77030 USA

来源：

HUMAN GENETICS | 2015年 / 134卷 / 06期

关键词：

Vocal Cord Paralysis; Motor Nerve Conduction Velocity; Distal Symmetric Polyneuropathies; Tooth Disease; Limb Girdle Muscular Dystrophy;

D O I：

10.1007/s00439-015-1548-3

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Charcot-Marie-Tooth disease is a heterogeneous group of inherited distal symmetric polyneuropathies associated with mutations in genes encoding components essential for normal functioning of the Schwann cell and axon. TRIM2, encoding a ligase that ubiquitinates the neurofilament light chain, was recently associated with early-onset neuropathy in a single patient. We report a TRIM2 homozygous missense mutation (c.2000A > C; p.D667A) in a patient with peripheral neuropathy and bilateral vocal cord paralysis, allowing for further delineation of the associated phenotypic spectrum.

引用

页码：671 / 673

页数：3

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